U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PMC

Items: 4

1.

Caliciviridae infectious disease

Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. [from MONDO]

MedGen UID:
963681
Concept ID:
CN281770
Disease or Syndrome
2.

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
3.

Fish-eye disease

Fish eye disease (FED) is a rare familial disorder characterized by severe high-density lipoprotein (HDL) deficiency and massive corneal opacities (summary by Kastelein et al., 1992). [from OMIM]

MedGen UID:
83354
Concept ID:
C0342895
Disease or Syndrome
4.

Protozoa infectious disease

An infection that is caused by protozoans. [from MONDO]

MedGen UID:
965123
Concept ID:
CN281745
Disease or Syndrome
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...